ABCC4 c.1545+171C>A

Variant ID: 13-95838784-G-T

NM_005845.3(ABCC4):c.1545+171C>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2148529
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine
Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G
Publication Date: 2021

Variant appearance in text: rs2148529
PubMed Link: 34007475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ABCC4: 1545+171C>A; rs2148529
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2148529
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A pharmacogenetic investigation of intravenous furosemide in decompensated heart failure: a meta-analysis of three clinical trials.

The Pharmacogenomics Journal
de Denus, S S; Rouleau, J L JL; Mann, D L DL; Huggins, G S GS; Cappola, T P TP; Shah, S H SH; Keleti, J J; Zada, Y F YF; Provost, S S; Bardhadi, A A; Phillips, M S MS; Normand, V V; Mongrain, I I; Dubé, M-P MP
Publication Date: 2017-03

Variant appearance in text: rs2148529
PubMed Link: 26927285
Variant Present in the following documents:
  • Main text
View BVdb publication page